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8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes
Author(s) -
Belloni Elena,
Trubia Maurizio,
Gasparini Patrizia,
Micucci Carla,
Tapinassi Cinzia,
Confalonieri Stefano,
Nuciforo Paolo,
Martino Bruno,
LoCoco Francesco,
Pelicci Pier Giuseppe,
Di Fiore Pier Paolo
Publication year - 2005
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20144
Subject(s) - chromosomal translocation , fusion gene , gene , fibroblast growth factor receptor 1 , biology , fusion protein , genetics , phenotype , tyrosine kinase , cancer research , receptor , fibroblast growth factor , recombinant dna
8p11 myeloproliferative syndrome (EMS) is a clinical‐pathologic entity characterized by rearrangements involving the FGFR1 gene, which encodes a receptor tyrosine kinase. These rearrangements invariably lead to aberrant fusion proteins in which the kinase activity is constitutively turned on, with resulting oncogenic properties. In this article, we describe a new translocation in EMS, t(7;8)(q34;p11), in which the FGFR1 gene is fused to a previously unidentified partner, the TIF1 gene. We show that both the TIF1–FGFR1 and FGFR1–TIF1 fusion proteins have the potential to be translated as a result of the translocation. Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease. © 2004 Wiley‐Liss, Inc.